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TACAAAAGCAGTGGATCACAGGAAC[A/G]TGTGGAGCTGAACCCAAGGAGTTCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604494 | ||||||||||||||||||||
Literature Links: |
IL18R1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
IL18R1 - interleukin 18 receptor 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282399.1 | 222 | Intron | NP_001269328.1 | |||
NM_003855.3 | 222 | Missense Mutation | CAT,CGT | H,R 65 | NP_003846.1 | |
XM_005264039.3 | 222 | Missense Mutation | CAT,CGT | H,R 65 | XP_005264096.1 | |
XM_005264040.3 | 222 | Missense Mutation | CAT,CGT | H,R 65 | XP_005264097.1 | |
XM_011512099.1 | 222 | Missense Mutation | CAT,CGT | H,R 65 | XP_011510401.1 | |
XM_017005181.1 | 222 | UTR 5 | XP_016860670.1 | |||
XM_017005182.1 | 222 | Intron | XP_016860671.1 | |||
XM_017005183.1 | 222 | Intron | XP_016860672.1 | |||
XM_017005184.1 | 222 | Intron | XP_016860673.1 |